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Volumn 65, Issue 3, 2008, Pages 412-415

Mosaicism for trisomy 21 in a patient with young-onset dementia: A case report and brief literature review

Author keywords

[No Author keywords available]

Indexed keywords

AMFEBUTAMONE; DONEPEZIL; MIRTAZAPINE;

EID: 40849113052     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.65.3.412     Document Type: Article
Times cited : (33)

References (30)
  • 1
    • 0020021909 scopus 로고
    • Developmental and other pathologic changes in syndromes caused by chromosome abnormalities
    • Gilbert EF, Opitz JM. Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. Perspect Pediatr Pathol. 1982;7:1-63.
    • (1982) Perspect Pediatr Pathol , vol.7 , pp. 1-63
    • Gilbert, E.F.1    Opitz, J.M.2
  • 2
    • 0014478735 scopus 로고
    • Mosaic mongolism
    • Richards BW. Mosaic mongolism. J Ment Defic Res. 1969;13(1):66-83.
    • (1969) J Ment Defic Res , vol.13 , Issue.1 , pp. 66-83
    • Richards, B.W.1
  • 3
    • 0014799072 scopus 로고
    • Mosaic mongolism, I: Clinical correlations
    • Kohn G, Taysi K, Atkins TE, Mellman WJ. Mosaic mongolism, I: clinical correlations. J Pediatr. 1970;76(6):874-879.
    • (1970) J Pediatr , vol.76 , Issue.6 , pp. 874-879
    • Kohn, G.1    Taysi, K.2    Atkins, T.E.3    Mellman, W.J.4
  • 4
    • 0005144889 scopus 로고
    • Mosaic trisomy in phenotypically normal mother of mongol
    • Verresen H, Vandenberghe H, Creemers J. Mosaic trisomy in phenotypically normal mother of mongol. Lancet. 1964;1:526-527.
    • (1964) Lancet , vol.1 , pp. 526-527
    • Verresen, H.1    Vandenberghe, H.2    Creemers, J.3
  • 5
    • 40849087269 scopus 로고    scopus 로고
    • Down's syndrome and Alzheimer's disease
    • Esiri M, Lee VM-Y, Trojanowski JQ, eds, Cambridge, England: Cambridge University Press;
    • Mann D. Down's syndrome and Alzheimer's disease. In: Esiri M, Lee VM-Y, Trojanowski JQ, eds. The Neuropathology of Dementia. Cambridge, England: Cambridge University Press; 2004:207-226.
    • (2004) The Neuropathology of Dementia , pp. 207-226
    • Mann, D.1
  • 6
    • 0031796972 scopus 로고    scopus 로고
    • A four year prospective study of age-related cognitive change in adults with Down's syndrome
    • Oliver C, Crayton L, Holland A, Hall S, Bradbury J. A four year prospective study of age-related cognitive change in adults with Down's syndrome. Psychol Med. 1998;28(6):1365-1377.
    • (1998) Psychol Med , vol.28 , Issue.6 , pp. 1365-1377
    • Oliver, C.1    Crayton, L.2    Holland, A.3    Hall, S.4    Bradbury, J.5
  • 7
    • 33644617316 scopus 로고    scopus 로고
    • Cognitive executive function in Down's syndrome
    • Rowe J, Lavender A, Turk V. Cognitive executive function in Down's syndrome. Br J Clin Psychol. 2006;45(pt 1):5-17.
    • (2006) Br J Clin Psychol , vol.45 , Issue.PART 1 , pp. 5-17
    • Rowe, J.1    Lavender, A.2    Turk, V.3
  • 11
    • 78651137999 scopus 로고
    • Interference effects of Stroop color-word test in childhood, adulthood, and aging
    • Comalli PE Jr, Wapner S, Werner H. Interference effects of Stroop color-word test in childhood, adulthood, and aging. J Genet Psychol. 1962;100:47-53.
    • (1962) J Genet Psychol , vol.100 , pp. 47-53
    • Comalli Jr, P.E.1    Wapner, S.2    Werner, H.3
  • 15
    • 0031939059 scopus 로고    scopus 로고
    • Molecular mapping of Alzheimer-type dementia in Down's syndrome
    • Prasher VP, Farrer MJ, Kessling AM, et al. Molecular mapping of Alzheimer-type dementia in Down's syndrome. Ann Neurol. 1998;43(3):380-383.
    • (1998) Ann Neurol , vol.43 , Issue.3 , pp. 380-383
    • Prasher, V.P.1    Farrer, M.J.2    Kessling, A.M.3
  • 16
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
    • 24-26
    • Rovelet-Lecrux A, Hannequin D, Raux G, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet. 2006;38(1):24-26.
    • (2006) Nat Genet , vol.38 , Issue.1
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3
  • 17
    • 0031056184 scopus 로고    scopus 로고
    • Plasma levels of amyloid beta proteins Abeta1-40 and Abeta1-42(43) are elevated in Down's syndrome
    • Tokuda T, Fukushima T, Ikeda S, et al. Plasma levels of amyloid beta proteins Abeta1-40 and Abeta1-42(43) are elevated in Down's syndrome. Ann Neurol. 1997;41(2):271-273.
    • (1997) Ann Neurol , vol.41 , Issue.2 , pp. 271-273
    • Tokuda, T.1    Fukushima, T.2    Ikeda, S.3
  • 18
    • 16044373524 scopus 로고    scopus 로고
    • Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
    • Scheuner D, Eckman C, Jensen M, et al. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med. 1996;2(8):864-870.
    • (1996) Nat Med , vol.2 , Issue.8 , pp. 864-870
    • Scheuner, D.1    Eckman, C.2    Jensen, M.3
  • 19
    • 0033549069 scopus 로고    scopus 로고
    • Improved discrimination of AD patients using beta-amyloid (1-42) and tau levels in CSF
    • Hulstaert F, Blennow K, Ivanoiu A, et al. Improved discrimination of AD patients using beta-amyloid (1-42) and tau levels in CSF. Neurology. 1999;52(8):1555-1562.
    • (1999) Neurology , vol.52 , Issue.8 , pp. 1555-1562
    • Hulstaert, F.1    Blennow, K.2    Ivanoiu, A.3
  • 20
    • 31844440459 scopus 로고    scopus 로고
    • Longitudinal CSF and MRI biomarkers improve the diagnosis of mild cognitive impairment
    • de Leon MJ, DeSanti S, Zinkowski R, et al. Longitudinal CSF and MRI biomarkers improve the diagnosis of mild cognitive impairment. Neurobiol Aging. 2006;27(3):394-401.
    • (2006) Neurobiol Aging , vol.27 , Issue.3 , pp. 394-401
    • de Leon, M.J.1    DeSanti, S.2    Zinkowski, R.3
  • 21
    • 0035836622 scopus 로고    scopus 로고
    • CSF tau and Abeta42 levels in patients with Down's syndrome
    • Tapiola T, Soininen H, Pirttila T. CSF tau and Abeta42 levels in patients with Down's syndrome. Neurology. 2001;56(7):979-980.
    • (2001) Neurology , vol.56 , Issue.7 , pp. 979-980
    • Tapiola, T.1    Soininen, H.2    Pirttila, T.3
  • 22
    • 0016341138 scopus 로고
    • Investigation of 142 mosaic mongols and mosaic parents of mongols: Cytogenetic analysis and maternal age at birth
    • Richards BW. Investigation of 142 mosaic mongols and mosaic parents of mongols: cytogenetic analysis and maternal age at birth. J Ment Defic Res. 1974;18(3):199-208.
    • (1974) J Ment Defic Res , vol.18 , Issue.3 , pp. 199-208
    • Richards, B.W.1
  • 23
    • 0024333857 scopus 로고
    • Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child
    • Rowe IF, Ridler MA, Gibberd FB. Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child. Lancet. 1989;2(8656):229.
    • (1989) Lancet , vol.2 , Issue.8656 , pp. 229
    • Rowe, I.F.1    Ridler, M.A.2    Gibberd, F.B.3
  • 24
    • 0027970461 scopus 로고
    • SPECT in adult mosaic Down's syndrome with early dementia
    • Puri BK, Zhang Z, Singh I. SPECT in adult mosaic Down's syndrome with early dementia. Clin Nucl Med. 1994;19(11):989-991.
    • (1994) Clin Nucl Med , vol.19 , Issue.11 , pp. 989-991
    • Puri, B.K.1    Zhang, Z.2    Singh, I.3
  • 25
    • 0344549920 scopus 로고
    • Alzheimer's disease (AD) in mosaic/translocation Down's syndrome (Ds) without mental retardation
    • Schapiro MB, Kumar A, White B, Grady CL, Friedland RP, Rapoport SI. Alzheimer's disease (AD) in mosaic/translocation Down's syndrome (Ds) without mental retardation. Neurology. 1989;39(suppl 1):169.
    • (1989) Neurology , vol.39 , Issue.SUPPL. 1 , pp. 169
    • Schapiro, M.B.1    Kumar, A.2    White, B.3    Grady, C.L.4    Friedland, R.P.5    Rapoport, S.I.6
  • 26
    • 0025016324 scopus 로고
    • A case-control study of Alzheimer's disease in Australia
    • Broe GA, Henderson AS, Creasey H, et al. A case-control study of Alzheimer's disease in Australia. Neurology. 1990;40(11):1698-1707.
    • (1990) Neurology , vol.40 , Issue.11 , pp. 1698-1707
    • Broe, G.A.1    Henderson, A.S.2    Creasey, H.3
  • 27
    • 0019402114 scopus 로고
    • Dementia of the Alzheimer type: Clinical genetics, natural history, and associated conditions
    • Heston LL, Mastri AR, Anderson VE, White J. Dementia of the Alzheimer type: clinical genetics, natural history, and associated conditions. Arch Gen Psychiatry. 1981;38(10):1085-1090.
    • (1981) Arch Gen Psychiatry , vol.38 , Issue.10 , pp. 1085-1090
    • Heston, L.L.1    Mastri, A.R.2    Anderson, V.E.3    White, J.4
  • 28
    • 0024456491 scopus 로고
    • Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child
    • Hardy J, Goate A, Owen M, Rossor M. Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child. Lancet. 1989;2(8665):743.
    • (1989) Lancet , vol.2 , Issue.8665 , pp. 743
    • Hardy, J.1    Goate, A.2    Owen, M.3    Rossor, M.4
  • 29
    • 0035949802 scopus 로고    scopus 로고
    • Specificity of the fivefold increase in AD in mothers of adults with Down syndrome
    • Schupf N, Kapell D, Nightingale B, et al. Specificity of the fivefold increase in AD in mothers of adults with Down syndrome. Neurology. 2001;57(6):979-984.
    • (2001) Neurology , vol.57 , Issue.6 , pp. 979-984
    • Schupf, N.1    Kapell, D.2    Nightingale, B.3
  • 30
    • 0022415610 scopus 로고
    • Trisomy 21 Down syndrome: Parental mosaicism
    • Uchida IA, Freeman VC. Trisomy 21 Down syndrome: parental mosaicism. Hum Genet. 1985;70(3):246-248.
    • (1985) Hum Genet , vol.70 , Issue.3 , pp. 246-248
    • Uchida, I.A.1    Freeman, V.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.